Biomedical subjects
Publications and source records attributed to A G James.
We report on an infant girl with Hirschsprung disease, postaxial polydactyly, and atrial septal defect who was born to a consanguineous Iraqi couple. A similar condition of aganglionic megacolon, postaxial polydactyly, and ventricular septal defect with a presumed autosomal recessive (AR) inheritance was reported by Laurence in two sibs [Laurence et al.; J Med Genet 12: 334-338, 1975].
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Mitochondria were isolated from Saccharomyces cerevisiae grown on different carbon sources prior to incubation with [gamma-32P]ATP. A major 46,000-M(r) phosphoprotein, corresponding in M(r) value to the E1 alpha subunit of the yeast pyruvate dehydrogenase complex (PDC), was detected only in mitochondria isolated from cells grown on a fermentable carbon source such as galactose. Immunoprecipitation with subunit-specific antiserum to the E1 component of mammalian or yeast PDC confirmed the identity of this polypeptide. PDC activity in isolated yeast mitochondria could be inactivated in an ATP-dependent fashion and reactivated in the presence of Ca2+ ions.
Regionalization of perinatal care and the efficient provision of effective and safe interhospital transport of premature and critically ill newborn infants have evolved over two decades. Antenatal transfer of the high-risk fetus to a tertiary perinatal center is optimal but not always achievable. Neonatal transport is a complex, highly organized, dynamic process that is still evolving. Resuscitation and stabilization, supported by the tertiary perinatal care center, commence within the environment of the community hospital. Current developments improving communication with community physicians and the availability of outreach education programs assist these processes. Transport remains a sophisticated, highly technological procedure that requires extremely skilled personnel. The application of new ventilatory techniques and other strategies may enable the safer transport of critically ill newborn infants. Regionalization of perinatal care has been achieved in many areas, but its viability is threatened by the current competitive health care environment. The neonatal transport team is likely to be the most potent stimulus for the development of the "perinatal partnership" during the current decade.
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Seromas are a significant cause of morbidity after modified radical mastectomy. The effect of closing dead space by suturing skin flaps to underlying muscle combined with early removal (48 hours postoperatively) of closed suction drains on formation of the seroma was evaluated prospectively in 37 patients. Thirty-three underwent modified radical mastectomy for invasive carcinoma while four underwent total mastectomy with a level 1 axillary dissection for multifocal intraductal carcinoma. Seromas occurred in three, all were minor, two required one aspiration only and one required two aspirations. Two were seromas of the lower flap while one was an axillary seroma. Except for one patient who had a wound hematoma develop, no other instances of morbidity were noted. Closing dead space by suturing skin flaps to underlying muscle combined with early removal of closed suction drains is associated with a low incidence of seroma formation after mastectomy. Use of this technique has important economic and clinical implications for patients who had mastectomy.
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Complete axillary dissection was performed in 287 patients undergoing modified radical mastectomy between 1984 and 1987 to identify patterns of axillary node metastases, as well as discontinuous axillary node ("skip") metastases. Positive pathologic findings were compared with preoperative clinical examinations in 266 patients and showed only 60 cases (22.6%) clinically suspicious for tumor, in contrast to 131 (45.6%) with pathologically confirmed positive lymph nodes. Axillary contents were classified level I, II, or III based on their relationship to the pectoralis minor muscle. An average of 24.2 nodes was resected per patient (level I, 10; level II, 8.1; and level III, 5.3). Tumors ranged in size from 0.5 to 12.0 cm (mean, 2.6 cm), and increasing tumor size was associated with an increased likelihood of positive nodes. The data on 204 patients with complete clinical and pathologic data show that of 119 patients with negative level I nodes a limited axillary dissection (level I only) would fail to identify 6 with positive level II and 2 with positive level III nodes, whereas of 85 patients with positive level I nodes limited axillary dissection would fail to identify 17 with positive level II nodes, 7 with positive level III nodes, and 27 with positive levels II and III nodes. Complete axillary dissection (levels I, II, and III) should be performed to stage patients accurately, as well as to remove tumor-involved nodes and diminish local axillary recurrences. Clinical examination of the axilla appears to be a poor means of identifying axillary metastatic cancer.
The role of maternal serum fructosamine estimation in the management of gestational diabetes was assessed in 78 consecutive patients over a 3-year period. Fructosamine results correlated significantly with mean plasma glucose levels over a 1- to 3-week interval, with the closest association being in the preceding week. Eighty-five percent of women with gestational diabetes had peak serum fructosamine levels above the normal range. If maternal levels exceeded 3.2 mmol/L, there was an 88% chance of abnormal glucose tolerance post partum. Our aim of management was a serum fructosamine level less than 2.5 mmol/L; patients who achieved this goal by 35 to 37 weeks' gestation had fewer obese babies with lower cord insulin and C-peptide levels as compared with neonates of mothers with elevated fructosamine concentrations.
This series of 307 patients who underwent radical neck dissection showed an overall recurrence rate of 19 percent. Clinical staging of disease was an accurate predictor of both recurrence and survival. Extranodal disease dramatically increased recurrence and decreased survival. Although our recurrence rate after radical neck dissection was lower than that previously reported for surgery alone, it was still significantly higher than that after adjuvant radiotherapy. We conclude that histologically proved neck disease should be treated by radical neck dissection, followed by adjuvant radiotherapy to decrease recurrence and, it is hoped, improve survival.
Needle localization of mammographically detected lesions has been shown to detect early breast cancer. One hundred seven patients who underwent needle localized biopsy from June 1977 to September 1985 were reviewed. Eighty percent of the biopsies were benign and 20 percent were cancers (22 patients). In patients undergoing modified radical mastectomy, 80 percent of the axillary specimens were node-negative. During the same 8 year period, 570 breast cancers were diagnosed. Needle localization was responsible for only 4 percent of all cancers found. Though needle localization represents an advance in the detection of early breast cancer, the majority of cancers are found by physical examination. The importance of routine examination by a physician and self-breast examination remains paramount.
Three hundred forty-one needle aspiration biopsies (NAB) of major salivary gland tumors were performed over a 32-year period. Eighty percent of tumors were benign, and 20% were malignant. Preoperative NAB findings were compared with pathologic diagnosis of the surgically resected specimen in all cases. Forty-six of 63 aspirates from malignant tumors were correctly diagnosed by NAB, establishing a sensitivity at 73%. Two hundred forty-nine of 265 aspirates from benign tumors were correctly diagnosed by NAB, establishing a specificity at 94%. Overall accuracy was 90%. Diagnostic error or difficulty in clinically localizing the tumor to the salivary gland was encountered in 64 patients with parotid tumors and 12 patients with submandibular tumors. NAB correctly localized over 85% of these tumors to the salivary gland, thus enabling both immediate and correct decision-making concerning subsequent management to be undertaken.
Some of the breast cancer chemotherapy trials conducted during the past 25 years were reviewed. In general, most authors noted a significantly improved disease-free survival and overall survival in premenopausal patients but not in postmenopausal patients. Considering all patients, most authors found a significant increase in the disease-free survival but not in overall survival. In one study, the relapse rate increased with time. In the first three years, the relapse rate in the control group greatly exceeded that in the treatment group, but as the years went on, this trend reversed, and an increasing percentage of the treated group had relapse. More time is required to draw firm conclusions.
Three hundred eight patients underwent parotidectomy for a benign parotid tumor between 1948 and 1979. Two hundred seventy-four had operation for primary tumor, and 34, for recurrent tumor. Ninety-eight percent of those with primary tumors had superficial or total parotidectomy, and 2 percent had local excision with a wide margin of normal tissue. In those with recurrent tumor, 91 percent had superficial or total parotidectomy and 9 percent had local excision with a wide margin of normal tissue. There were nine recurrences in the primary group (3.2 percent) and 10 in the recurrent group (29 percent), at an average follow-up of 10 and 13 years, respectively. The time to recurrence in the primary group was between 5 and 20 years, whereas, second recurrences in the recurrent group generally took place within 5 years. Seven patients in the primary group (2.5 percent) and 9 in the recurrent group (26 percent) had sacrifice of the facial nerve. Most facial nerve sacrifices in the primary group were minor, involving a branch of the nerve only. Facial nerve sacrifice in the recurrent group, however, usually involved division of the nerve or the nerve trunk. These findings demonstrate that the major morbidity associated with managing benign parotid tumors occurs in dealing with recurrent tumors. Recurrence is uncommon if superficial or total parotidectomy is performed for a primary tumor.
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Ultrasonic measurements of biparietal diameter, head circumference, abdominal circumference, and femur length were made in 50 preterm fetuses within 48 h of delivery. Measurements of femur length in addition to fetal head and abdomen significantly improved fetal weight prediction. A computer-derived formula incorporating femur length as an index of total fetal length was derived. This predicted 84% of weights within 10% of the birth weight. Comparisons with other formulas are given.
The relationship of mast cells to tumor growth has been debated but not elucidated. The existence of a mast cell-free animal, the W/Wv mouse, provides a model in which tumor metastasis can be studied with special reference to host tissues and their mast cell content rather than to the adhesiveness of the tumor cell itself. Both hind footpads of 30 W/Wv mice and 30 control mice (+/+) were injected with 2 X 10(5) cells of B16-F10 melanoma cells. The left paw received 1000 rads orthovoltage radiation 12 hr before tumor inoculation. Growth of tumors in both paws was recorded. Ten animals from each group were killed on Day 31 after tumor inoculation, and the remaining animals were kept until they died. Autopsy was performed in all animals, and patterns of metastasis were recorded. Results showed that (1) preinoculation radiation significantly slowed tumor growth in the left paw (P = 0.0009), and (2) lung metastases were present in 4 of 10 W/Wv mice, but in none of 10 +/+ mice killed after 31 days (P = 0.05). Overall, 17 of 25 W/Wv mice and 8 of 26 +/+ mice had lung metastases (P = 0.008).